Which disorder is associated with a deficiency in arylsulfatase A?

A deficiency in arylsulfatase A is specifically linked to Metachromatic leukodystrophy (MLD). Arylsulfatase A is an enzyme essential for the metabolism of sulfatides, which are sphingolipids that play crucial roles in the formation and maintenance of myelin sheaths in the nervous system. When arylsulfatase A is deficient, sulfatides accumulate within the cells, particularly in the central and peripheral nervous systems, leading to neurological symptoms and demyelination.

Patients with MLD often present with progressive motor and cognitive decline, as well as varying degrees of ataxia and peripheral neuropathy, depending on the age of onset. The disorder can manifest in three forms: late infantile, juvenile, and adult, with the late infantile form being the most common and presenting with rapid neurological decline.

Understanding the specific enzyme deficiencies associated with various lysosomal storage disorders is crucial for diagnosing and managing these conditions, particularly for disorders such as MLD, which distinctly involves arylsulfatase A. This highlights the unique biochemical pathways impacted by each condition and underscores the importance of enzyme activity in the maintenance of cellular function and health.